Incidental Mutation 'IGL03276:Tmem39a'
| ID |
415415 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem39a
|
| Ensembl Gene |
ENSMUSG00000002845 |
| Gene Name |
transmembrane protein 39a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38379060-38412524 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38405646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 74
(N74K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002924]
[ENSMUST00000163133]
[ENSMUST00000163884]
[ENSMUST00000163948]
[ENSMUST00000171687]
|
| AlphaFold |
Q9CYC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002924
AA Change: N228K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002924
Gene: ENSMUSG00000002845
AA Change: N228K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
476 |
9.4e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163133
|
| SMART Domains |
Protein: ENSMUSP00000130122
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163884
AA Change: N228K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132515
Gene: ENSMUSG00000002845
AA Change: N228K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
41 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
42 |
475 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163948
AA Change: N74K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000130791
Gene: ENSMUSG00000002845
AA Change: N74K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
34 |
N/A |
INTRINSIC |
|
Pfam:Tmp39
|
35 |
164 |
7.1e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165631
|
| SMART Domains |
Protein: ENSMUSP00000130186
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
101 |
9.7e-49 |
PFAM |
|
Pfam:Tmp39
|
99 |
134 |
1.7e-18 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166854
AA Change: N108K
|
| SMART Domains |
Protein: ENSMUSP00000127040
Gene: ENSMUSG00000002845
AA Change: N108K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
152 |
4.9e-44 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000169554
AA Change: N41K
|
| SMART Domains |
Protein: ENSMUSP00000127143
Gene: ENSMUSG00000002845
AA Change: N41K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
1 |
190 |
2.2e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171064
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171687
|
| SMART Domains |
Protein: ENSMUSP00000126218
Gene: ENSMUSG00000002845
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmp39
|
40 |
192 |
4.4e-62 |
PFAM |
|
Pfam:Tmp39
|
193 |
408 |
4.2e-119 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,372,884 (GRCm39) |
D165G |
possibly damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,497,929 (GRCm39) |
M239K |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt35 |
C |
T |
11: 99,983,953 (GRCm39) |
S349N |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,507,260 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,104,642 (GRCm39) |
E384G |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
probably damaging |
Het |
|
| Other mutations in Tmem39a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0270:Tmem39a
|
UTSW |
16 |
38,384,675 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Tmem39a
|
UTSW |
16 |
38,411,760 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0539:Tmem39a
|
UTSW |
16 |
38,411,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Tmem39a
|
UTSW |
16 |
38,405,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1324:Tmem39a
|
UTSW |
16 |
38,393,531 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4052:Tmem39a
|
UTSW |
16 |
38,406,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Tmem39a
|
UTSW |
16 |
38,411,524 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4919:Tmem39a
|
UTSW |
16 |
38,405,561 (GRCm39) |
missense |
probably benign |
|
|
R5109:Tmem39a
|
UTSW |
16 |
38,411,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5901:Tmem39a
|
UTSW |
16 |
38,393,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5978:Tmem39a
|
UTSW |
16 |
38,411,392 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5979:Tmem39a
|
UTSW |
16 |
38,396,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6375:Tmem39a
|
UTSW |
16 |
38,405,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Tmem39a
|
UTSW |
16 |
38,406,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7485:Tmem39a
|
UTSW |
16 |
38,408,658 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8114:Tmem39a
|
UTSW |
16 |
38,411,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9756:Tmem39a
|
UTSW |
16 |
38,396,126 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Tmem39a
|
UTSW |
16 |
38,396,140 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Tmem39a
|
UTSW |
16 |
38,408,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation